Recruiting

Observational Study

Sponsor:

Mayo Clinic

Code:

NCT02958462

Conditions

Myeloid Malignancy

Inherited Bone Marrow Failure Syndrome

Clonal Expansion

Cytopenia

Bone Marrow Failure Syndrome

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Interventions

Biospecimen Collection

Bone Marrow Biopsy

Punch Biopsy

Buccal Swab

Clinical Evaluation

Study Details

Brief summary:

This clinical trial tests next generation sequencing (NGS) for the detection of precursor features of pre-myeloid cancers and bone marrow failure syndromes. NGS is a procedure that looks at relevant cancer associated genes and what they do. Finding genetic markers for pre-malignant conditions may help identify patients who are at risk of pre-myeloid cancers and bone marrow failure syndromes and lead to earlier intervention.

Conditions

Myeloid Malignancy

Inherited Bone Marrow Failure Syndrome

Clonal Expansion

Cytopenia

Bone Marrow Failure Syndrome

Study ID

NCT02958462

Start date

Jan 16, 2017

Status verified date

Mar, 2025

Completion date

Sep 15, 2035

Anticipated

Primary completion date

Sep 15, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Patients with idiopathic cytopenias of unclear significance (ICUS)
  • Patients with clonal hematopoiesis of indeterminate significance (clonal hematopoiesis of indeterminate potential \[CHIP\]), including the recently described CHIP syndrome called VEXAS (vacuoles, E1 ubiquitin ligase, X chromosomal, autoimmune and somatic)
  • Patients with clonal cytopenias of undetermined significance (CCUS)
  • Marrow failure syndromes with myeloid malignancy predisposition - telomere dysfunction, chromosomal breakage disorders
  • Germ line inherited syndromes with risk for malignant transformation - GATA2, CEBPA, ETV-6, RUNX1, JAK2, PF6, etc.
  • Low risk MDS (idiopathic dysplasia of unclear significance)
  • Family member of a patient with one of the above conditions
  • Patient at high risk or suspected of developing one of the above conditions

Exclusion Criteria:

  • Patients under 18 years of age

Study Design

Enrollment

2000 participants

Anticipated

Intervention Model

Single group

Primary purpose

Screening

Interventions and Outcome Measures

Arms

experimental: Screening (biospecimen collection, NGS analysis)

Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.

Interventions

Biospecimen Collection

Undergo blood sample, hair follicle, and saliva collection

Bone Marrow Biopsy

Undergo a bone marrow biopsy

Punch Biopsy

Undergo a skin punch biopsy

Buccal Swab

Undergo a saliva or buccal swab

Clinical Evaluation

Undergo clinical assessment

Genetic Counseling

Receive genetic counseling

Quality-of-Life Assessment

Ancillary studies

Electronic Health Record Review

Ancillary studies

Primary outcome measure

  • Occurrence of cytopenias [ Time Frame: Up tof 5 years ]

Central Contacts and Locations

Central contacts

Dani Rud

507-284-0228cimpmlresearch@mayo.edu

Clinical Trials Referral Office

855-776-0015mayocliniccancerstudies@mayo.edu

Locations

Mayo Clinic in Arizona

Recruiting

Scottsdale, Arizona, United States, 85259

Contacts

Clinical Trials Referral Office

855-776-0015mayocliniccancerstudies@mayo.edu

Principal Investigator:

Yael N. Kusne, M.D., Ph.D.

Mayo Clinic in Florida

Recruiting

Jacksonville, Florida, United States, 32224-9980

Contacts

Clinical Trials Referral Office

855-776-0015mayocliniccancerstudies@mayo.edu

Principal Investigator:

James M. Foran, M.D.

Mayo Clinic in Rochester

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Clinical Trials Referral Office

855-776-0015mayocliniccancerstudies@mayo.edu

Principal Investigator:

Mrinal S. Patnaik, MBBS

More Information

Sponsor

Mayo Clinic

Last update posted

Feb 23, 2026

Last verified

Mar, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2026-02-23.